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Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizuresMichelle Hua, Mohamad-Reza Aghanoori, Melissa MacPherson, et al.
Prenatal Diagnosis|August 13, 2024
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disordersChristel Thauvin-Robinet, Aurore Garde, Julian Delanne, et al.
American Journal of Human Genetics|July 30, 2022
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse modelAntonio Vitobello, Benoit Mazel, Vera G Lelianova, et al.
Journal of Medical Genetics|July 29, 2021
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrumClara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivityQuentin Thomas, Thierry Gautier, Dana Marafi, et al.
Brain : a Journal of Neurology|July 19, 2022
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypesMarcello Scala, Masashi Nishikawa, Hidenori Ito, et al.
European Journal of Human Genetics : EJHG|April 4, 2025
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem featuresChristel Thauvin-Robinet, Aurore Garde, Maud Favier, et al.
American Journal of Human Genetics|March 5, 2019
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive SyndromeElizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, et al.
Human Genetics|May 4, 2021
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsyIlaria Parenti, Daphné Lehalle, Caroline Nava, et al.
European Journal of Human Genetics : EJHG|May 27, 2024
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)Eléonore Viora-Dupont, Françoise Robert, Aline Chassagne, et al.
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